Catalog

Phosphoenolpyruvate carboxykinase 1 deficiency

No MMS code

Link to WHO Definition

Phosphoenolpyruvate carboxykinase 1 deficiency – http://id.who.int/icd/entity/671802176

This refers a deficiency enzyme which in humans is encoded by the PCK1 gene. This is an enzyme in the lyase family used in the metabolic pathway of gluconeogenesis. It converts oxaloacetate into phosphoenolpyruvate and carbon dioxide.